Variant report

Variant	rs9493052
Chromosome Location	chr6:132005572-132005573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10080319	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17060551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56776570	1.00[EUR][1000 genomes]
rs73552660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7740541	0.94[EUR][1000 genomes]
rs7744355	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9321305	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321306	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483312	0.94[EUR][1000 genomes]
rs9483316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483317	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493043	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493044	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493047	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv886669	chr6:131991532-132059074	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131975200-132008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:131986800-132009600	Strong transcription	HepG2	liver
3	chr6:131993600-132020600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:131996600-132008600	Weak transcription	Liver	Liver
5	chr6:131998600-132054000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:131998800-132043000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:131999200-132017600	Weak transcription	Fetal Intestine Large	intestine
8	chr6:131999400-132020600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:131999800-132009000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:131999800-132009200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:132000000-132009000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:132000000-132014400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:132002600-132054400	Weak transcription	K562	blood
14	chr6:132003200-132007800	Enhancers	Primary B cells from cord blood	blood
15	chr6:132003800-132007400	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:132004800-132006800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:132004800-132009400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:132005400-132007000	Enhancers	GM12878-XiMat	blood
19	chr6:132005400-132011200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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